Episode 5: The Road to the CSNK2A1 Foundation ft. Jennifer Sills

Overview


In Episode 5 of Roadmap to Rare, host Eric Finn is joined by Jennifer Sills, Founder and President of the CSNK2A1 Foundation, which supports families affected by Okur-Chung Neurodevelopmental Syndrome (OCNDS). Jennifer shares her family’s road to getting a diagnosis for her daughter and describes how a phone call with Dr. Wendy Chung led her to start the Foundation. Jennifer also discusses the importance of supporting the whole family, reaching families in many languages, and the ways that families can get involved with the CSNK2A1 Foundation.


Key takeaways:


  • Jennifer’s family’s journey and the years-long path to an OCNDS diagnosis
  • The story of founding the CSNK2A1 Foundation
  • Why the CSNK2A1 Foundation is named for the gene
  • How the foundation supports families and how it drives OCNDS research forward
  • Overview of current research studies and how families can take part


Episode highlights:


4:12 Receiving an OCNDS diagnosis

6:57 The phone call with Dr. Wendy Chung that inspired the start of the CSNK2A1 Foundation

9:16 Why the foundation is named for the gene, CSNK2A1, rather than for the disorder

12:16 Foundation focus areas and long and short-term plans

22:45 Exploring AI-based tools to assist with daily caregiving

25:52 Current OCNDS research priorities: drug repurposing and gene therapy feasibility

30:24 On being the world’s leading funder of OCNDS research, and why research takes time

31:20 How families can register with the foundation, connect with the community, and take part in research

34:51 A closing message to newly diagnosed families: be brave, be bold, and reach out


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Episode Transcript

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